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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.63941939C>T
CA117836
SCN4A
c.4343G>A (p.Arg1448His)
ClinVar
dbSNP
gnomAD v4
17
g.63941939C>G
CA350900
SCN4A
c.4343G>C (p.Arg1448Pro)
ClinVar
dbSNP
17
g.63941939C>A
CA400616189
SCN4A
c.4343G>T (p.Arg1448Leu)
ClinVar
dbSNP
Number of alleles fetched
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